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Infantile Dilated Cardiomyopathy in Alström Syndrome.
Cureus
December 2024
Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy.
View Article and Find Full Text PDFNavigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Cureus
November 2024
Rare Diseases, Rare Diseases Community (RDCom), Buenos Aires, ARG.
Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.
View Article and Find Full Text PDFOutbreak of paediatric myocarditis associated with parvovirus B19 infection in Italy, January to October 2024.
Euro Surveill
November 2024
The members of the Pediatric INF-ACT Network Study Group are listed under Collaborators.
Article Synopsis
- Acute myocarditis cases in kids are increasing in Italy, with 65 suspected cases reported in 2024, largely linked to parvovirus B19 infection.
- Among these cases, 29 children needed intensive care and there were eight fatalities, emphasizing the severity of the situation.
- The study suggests a need for better diagnosis, enhanced monitoring, and standardized treatment strategies, as only about one-third of affected children received effective intravenous immunoglobulins.
A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.
Mol Ther
January 2025
Center for Medical Education, Ball State University, Muncie, IN 47306, USA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine-Muncie, Muncie, IN 47303, USA. Electronic address:
Article Synopsis
- Pompe disease results from a deficiency in acid alpha-glucosidase, leading to muscle weakness, respiratory issues, and cardiomyopathy in infants; the only current treatment is enzyme replacement therapy (ERT).
- A new approach using a Centyrin protein-conjugated short interfering RNA (siRNA) targets the transferrin receptor (CD71) and the GYS1 enzyme to inhibit glycogen synthesis, potentially restoring glycogen balance instead of just degrading it.
- In tests on a Pompe mouse model, this novel siRNA conjugate effectively reduced GYS1 levels and glycogen accumulation, improving exercise performance, indicating its promise as a therapy for late-onset Pompe disease or in combination with ERT for infants.
RASopathies in Cardiac Disease.
Annu Rev Med
November 2024
1Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA; email:
RASopathies are a group of clinically overlapping autosomal dominant disorders caused primarily by mutations in genes that reside along the canonical Ras-mitogen-activated protein kinase signaling cascade. Though individually rare, collectively, these disorders constitute one of the largest families of congenital disorders worldwide, particularly for infantile hypertrophic cardiomyopathy. Significantly, despite almost five decades of RASopathy research, therapeutic options remain limited and focused primarily on treating symptoms rather than disease etiology.
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